gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63209833 (AFR)
Genomes Max Group AF
0.63209833 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40132750A>G , CM000679.2:g.40132750A>G | GRCh38 |
| NC_000017.10:g.38289003A>G , CM000679.1:g.38289003A>G | GRCh37 |
| NC_000017.9:g.35542529A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398532.9:c.1489-292A>G MANE Select | ENSP00000381543.3:n.1489-292A>G | |
| ENST00000339569.9:n.650-292A>G | ||
| ENST00000398532.8:c.1489-292A>G | ENSP00000381543.3:n.1489-292A>G | |
| ENST00000578648.5:c.1441-292A>G | ENSP00000462731.1:n.1441-292A>G | |
| ENST00000579565.5:c.700-292A>G | ENSP00000462945.1:n.700-292A>G | |
| ENST00000580086.1:n.109-292A>G | ||
| ENST00000581246.5:n.530-292A>G | ||
| ENST00000583127.1:n.320-292A>G | ||
| NM_001012241.1:c.700-292A>G | NP_001012241.1:n.700-292A>G | |
| XM_005257298.3:c.1489-292A>G | XP_005257355.1:n.1489-292A>G | |
| XM_005257299.3:c.838-292A>G | XP_005257356.2:n.838-292A>G | |
| XM_011524740.1:c.154-292A>G | XP_011523042.1:n.154-292A>G | |
| NM_001012241.2:c.700-292A>G | NP_001012241.1:n.700-292A>G | |
| NM_001365919.1:c.1489-292A>G MANE Select | NP_001352848.1:n.1489-292A>G | |
| NM_001365920.1:c.1441-292A>G | NP_001352849.1:n.1441-292A>G |